New Coalition Draws Attention to Plight of Those with Rare Diseases

Julie Raskin, among those involved in creation of the NJ Rare coalition, speaks at health policy forum focused on rare diseases.

New Jersey pharmaceutical companies, healthcare providers and patient advocates are working together – in a newly-formed group called NJ Rare -- to solve the vexing challenge of finding treatments for diseases that affect relatively few people and therefore are the focus of less research.

People with rare diseases face a wide range of challenges, including having few in-network doctors who specialize in treating their conditions; waiting for medications approved to treat their conditions; expenses for both treatments and existing drugs, and even waiting years to even receive a diagnosis. )

Julie Raskin has been active in the effort to launch NJ Rare, which is a project of the nonprofit National Organization for Rare Disorders. Speaking yesterday at a health policy forum focused on rare diseases, she said the the group should expand its reach beyond patient advocacy groups to include pharmaceutical companies, healthcare providers and insurers.

NJ Rare is advocating for increased attention to rare diseases among health policymakers.

“We need some sort of hub where we can all work together,” said Raskin, whose son Ben was born with a congenital hyperinsulinism, a rare disorder that leads to severe and prolonged low blood-sugar levels. Her son’s condition led her to become executive director of Congenital Hyperinsulinism International, which advocates for patients with the disorder.

Dr. Swati Sathe, director of inpatient neurology at St. Joseph’s Regional Medical Center in Paterson, proposed a series of steps to encourage treatment of rare diseases, including establishing more centers of excellence focused on single disorders and, when that’s not practical, to address a group of disorders that affect the same systems of the body.

Other steps would include discouraging broad “panel” testing that tests all of a person’s chromosomes, which can lead to unnecessary expenses when a patient’s family history can point to a limited number of chromosomes that need to be tested. A third step would be working to increase awareness of rare diseases in both the general population and among healthcare providers, including providing more education on such disorders in medical schools.

Raskin noted that while there are many rare diseases – roughly 7,000 diseases affect fewer than 200,000 Americans – the patients share certain experiences, including shortages of specialists familiar with their ailment and trying to find successful treatments.

Taking part in a panel discussion at the forum, which was hosted by the pharmaceutical trade association the HealthCare Institute of New Jersey at the Forsgate Country Club in Monroe Township in Middlesex County, Raskin cited some potential benefits of the 2010 Affordable Care Act for patients with rare diseases, including the law’s prohibition on discriminating against people with pre-existing medical conditions.

But she said much remains to be done to help people with rare ailments, including finding ways for them to travel to medical “centers of excellence” that treat their specific disease.

Other panelists noted that most health plans available through the new health insurance marketplace in New Jersey have limited provider networks, which could make it more difficult to find providers who specialize in a specific disease – for example, the specialist might be out-of-network and even located in another state.

The cost of treatments poses another challenge For example, patients can find it difficult to get their insurance to cover medications that doctors use to treat rare diseases but which haven’t been approved by the Food and Drug Administration for that specific use.

In addition, Raskin noted that while the insurance marketplace provides subsidies to buy coverage for families with incomes up to $94,200, a family of four at the New Jersey average income of roughly $99,000 could struggle to pay the combination of insurance premiums – which could be more than $2,000 per month for a family plan that includes a wider network of providers -- and out-of-pocket expenses, which are capped at $12,700 per year for a family.

Dr. Swati Sathe, director of inpatient neurology at St. Joseph’s Regional Medical Center in Paterson, said it’s a challenge for patients with rare disorders to even get a diagnosis. She said young doctors are less likely than older doctors to order tests to determine whether a patient has a rare disease. That’s because there’s been a change in how doctors are trained, with an increased focus on diagnosing illnesses can be treated with existing medication, while many rare diseases cannot be addressed with available treatments, she said.

“That’s just human nature – you want to make a diagnosis that you can do something about,” Sathe said, adding that testing for rare diseases can be expensive. She also said some doctors fear lawsuits if test results contradict an earlier diagnosis.

However, Sathe said, the skills applied when diagnosing rare diseases can have wider applications. “If you can diagnosis rare disorders it will make your life diagnosing more common disorders much easier,” she said.

She added that patients with rare diseases can suffer for decades without ever knowing the cause of their condition. She cited the example of one of her patients, a 78-year-oldwho doggedly pursued a diagnosis after 26 years of physical decline. It turned out that the patient had Pompe disease, a rare disorder that causes progressive muscle weakness. The patient decided against receiving treatment, content to know her diagnosis. “Most of these disorders are extremely underdiagnosed,” said Sathe.

Dr. Tanya Pagan Raggio-Ashley, an official with the regional office of the U.S. Department of Health and Human Services, highlighted the potential benefits of the ACA in combating rare diseases, including making healthcare more accessible through Medicaid expansion.

The keynote speaker at the event was John Crowley, chairman and CEO of Amicus Therapeutics, a biopharmaceutical company focused on rare genetic diseases.

Crowley has two children with Pompe disease and helped lead the effort that successfully developed treatments for the disorder. While he said the work on Pompe’s disease is an example of the successes that can occur through research on rare diseases, it was an incomplete success since the treatment isn’t a cure.

“Rarely do we develop a medicine, if ever, where’s it’s that silver bullet, that cure where you can kinda put up the banner ‘mission accomplished’ and go home and pat each other on the back,” Crowley said.

But Crowley also noted that research in rare diseases can have large implications, citing the example of statins, a type of cholesterol medication that was originally developed to treat a rare disease, hypercholesterolemia.

“By understanding genetic medicine and rare diseases, we will open the gateway to treatments and cures for much more prevalent, non-rare disorders,” Crowley said.